ʻO Cri du chat syndrome

ʻO Cri du chat syndrome kahi hui o nā ʻōuli i loaʻa mai ka nalowale ʻana i kahi ʻāpana chromosome helu 5. Hoʻokumu ʻia ka inoa o ka maʻi maʻi i ka uē o ke pēpē, kahi kiʻekiʻe a kani like me ka pōpoki.

ʻAʻohe loa ʻo Cri du chat syndrome. Hoʻokumu ʻia ia e kahi ʻāpana chromosome 5 e nalo ana.

Manaʻo ʻia ka hapa nui o nā hihia i ka wā o ka hoʻomohala ʻana o ka hua manu a sperm paha. Kū mai kahi helu liʻiliʻi o nā hihia ke hele ka makua i kahi ʻano ʻokoʻa, hoʻoponopono hou ʻia o ka chromosome i kā lākou keiki.

ʻO nā hōʻailona me:

• Uē kū kiʻekiʻe a kani paha me he pōpoki lā
• Pāheʻe i lalo i nā maka
• ʻO nā pelu Epicanthal, kahi pale o ka ʻili ma luna o ke kihi o loko o ka maka
• Ke kaumaha hānau haʻahaʻa a me ka ulu lohi
• Nā pepeiao hoʻohaʻahaʻa haʻahaʻa a kaulike ʻole paha
• Lohe hoʻolohe
• Nā kīnā o ka puʻuwai
• Kīnā ʻole o ka noʻonoʻo
• Pahele pūnaewele a hoʻopili paha i nā manamana lima a me nā manamana wāwae
• Ka piko o ka iwi kuamoʻo (scoliosis)
• ʻO ka laina hoʻokahi i ka poho o ka lima
• ʻO nā peʻa ʻili ma mua pono o ka pepeiao
• Lohi a hoʻopiha ʻole paha i ka hoʻomohala ʻana o nā mākau kaʻa
• ʻO ke poʻo liʻiliʻi (microcephaly)
• Kaʻi liʻiliʻi (micrognathia)
• Maka maka ākea

E hana ka mea mālama ola i kahi hoʻokolohua kino. Hōʻike paha kēia:

• Hernia inguinal
• Diastasis recti (ka hoʻokaʻawale ʻana i nā mākala ma ka ʻōpū)
• Leo hoʻohaʻahaʻa haʻahaʻa
• Nā hiʻohiʻona hiʻohiʻona hiʻohiʻona

Hiki i nā hoʻokolohua genetic ke hōʻike i kahi ʻāpana o ka chromosome e nalo ana 5. E hōʻike paha ke poʻo iwi poʻo x i kekahi mau pilikia me ke ʻano o ke kumu o ka iwi poʻo.

ʻAʻohe mālama kūikawā. E hōʻike ana kāu mea hāʻawi i nā ala e mālama a mālama ai i nā ʻōuli.

Pono nā mākua o kahi keiki me kēia maʻi e loaʻa i ka ʻōlelo aʻoaʻo kūʻauhau a me ka hoʻāʻo ʻana e hoʻoholo inā hoʻololi ʻia kekahi makua i ka chromosome 5.

5P- ʻAhahui - fivepminus.org

ʻO ka maʻi kīnā ʻole ka ʻike maʻamau. Hoʻomaopopo kahi hapalua o nā keiki me kēia maʻi i ka mākau waha e kamaʻilio. Hoʻomaopopo iki ʻia ka uē e like me ka pōpoki i ka hala ʻana o ka manawa.

Pili ka pilikia i ka nui o ke kino kīnā a me nā pilikia o ke kino. Hoʻopili paha nā ʻōuli i ka hiki i ke kanaka ke mālama iā ia iho.

Hoʻomaopopo pinepine ʻia kēia maʻi ma ka wā hānau. E kūkākūkā kāu mea hāʻawi i nā hōʻailona o kāu pēpē me ʻoe. He mea nui e hoʻomau i nā kipa maʻamau me nā mea hāʻawi o ke keiki ma hope o ka haʻalele ʻana i ka haukapila.

Paipai ʻia ka ʻōlelo aʻoaʻo genetic a me ka hoʻāʻo ʻana no nā poʻe āpau me ka moʻolelo ʻohana o kēia maʻi.

ʻAʻohe pale e ʻike ʻia. ʻO nā kāne me ka mōʻaukala ʻohana o kēia maʻi e makemake ana e hāpai, e noʻonoʻo paha i nā ʻōlelo aʻo kūpuna.

Chromosome 5p holoi ʻana i ka maʻi maʻi; 5p hōʻemi maʻi; Syndrome uʻi pōpoki

Bacino CA, Lee B. Cytogenetics. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 98.

ʻO Madan-Khetarpal S, ʻo Arnold G. Nā maʻi genetic a me nā kūlana dysmorphic. I: Zitelli BJ, McIntire SC, Nowalk AJ, eds. ʻO Zitelli lāua ʻo Davis 'Atlas o ka Pediatric Physical Diagnosis. ʻEpekema 7 Piladelapia, PA: Elsevier; 2018: chap 1.